North American Indian childhood cirrhosis

What is North American Indian childhood cirrhosis?

North American Indian childhood cirrhosis is a rare liver disorder that occurs in children. The liver malfunction causes yellowing of the skin and whites of the eyes (jaundice) in affected infants. The disorder worsens with age, progressively damaging the liver and leading to chronic, irreversible liver disease (cirrhosis) in childhood or adolescence. Unless it is treated with liver transplantation, North American Indian childhood cirrhosis typically causes life-threatening complications including liver failure.

How common is North American Indian childhood cirrhosis?

North American Indian childhood cirrhosis has been found only in children of Ojibway-Cree descent in the Abitibi region of northwestern Quebec, Canada. At least 30 affected individuals from this population have been reported.

What genes are related to North American Indian childhood cirrhosis?

North American Indian childhood cirrhosis results from at least one known mutation in the CIRH1A gene. This gene provides instructions for making a protein called cirhin, whose precise function is unknown. Within cells, cirhin is located in a structure called the nucleolus, which is a small region inside the nucleus where ribosomal RNA (rRNA) is produced. A chemical cousin of DNA, rRNA is a molecule that helps assemble protein building blocks (amino acids) into functioning proteins. Researchers believe that cirhin may play a role in processing rRNA. Studies also suggest that cirhin may function by interacting with other proteins.

Cirhin is found in many different types of cells, so it is unclear why the effects of North American Indian childhood cirrhosis appear to be limited to the liver. Researchers are working to determine how a CIRH1A gene mutation causes the progressive liver damage characteristic of this disorder.

How do people inherit North American Indian childhood cirrhosis?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Where can I find information about diagnosis or management of North American Indian childhood cirrhosis?

These resources address the diagnosis or management of North American Indian childhood cirrhosis and may include treatment providers.

The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
healthcare professional.
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